rs80357789
From SNPedia
Merged into | rs80357724 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TT;TT) | 0 | common in clinvar |
Make rs80357789(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43094733 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357789 |
dbSNP (classic) | rs80357789 |
ClinGen | rs80357789 |
ebi | rs80357789 |
HLI | rs80357789 |
Exac | rs80357789 |
Gnomad | rs80357789 |
Varsome | rs80357789 |
LitVar | rs80357789 |
Map | rs80357789 |
PheGenI | rs80357789 |
Biobank | rs80357789 |
1000 genomes | rs80357789 |
hgdp | rs80357789 |
ensembl | rs80357789 |
geneview | rs80357789 |
scholar | rs80357789 |
rs80357789 | |
pharmgkb | rs80357789 |
gwascentral | rs80357789 |
openSNP | rs80357789 |
23andMe | rs80357789 |
SNPshot | rs80357789 |
SNPdbe | rs80357789 |
MSV3d | rs80357789 |
GWAS Ctlg | rs80357789 |
Status | Merged into rs80357724 |
Max Magnitude | 6 |
rs80357789, also known as 916delTT, c.797_798delTT and p.Val266=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80357789(TT;TT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41246749_41246750delAA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031279.8, RCV000049141.5, RCV000131867.3, RCV000167858.1, |